Delineating the Genetic Basis of RNF213-related vasculopathies: The association of PKHD1 variants with bilateral cerebral vasculopathy - PubMed
8 days ago
- #cerebrovascular disorder
- #PKHD1 gene
- #Moyamoya disease
- Moyamoya disease (MMD) is a cerebrovascular disorder with progressive stenosis of the internal carotid artery and fragile perforator networks.
- RNF213 is a known susceptibility gene for MMD, but the full genetic basis remains unclear.
- Whole-exome sequencing was conducted on 122 patients (69 bilateral MMD, 13 unilateral MMD, 40 ICAS) and 458 controls.
- PKHD1 gene variants (p.Ile2364Asn and p.Ser3210Cys) were significantly associated with bilateral MMD.
- PKHD1 expression was higher in specific mouse cerebrovascular endothelial-cell clusters.
- The study suggests PKHD1 may play a role in bilateral MMD, warranting further research.